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J Fratkin

Publications and source records attributed to J Fratkin.

13 recordsLinked to original sources
PubMed2006

Postinfectious gastroparesis related to autonomic failure: a case report.

BACKGROUND AND AIM: Severe dysautonomia may be secondary to viral infections, resulting in impaired autoimmune, cardiovascular, urinary and digestive dysfunction. Herein, we present a case of a 31-year-old white female patient who had severe gastroparesis related to autonomic failure following an episode of acute gastroenteritis. This seems to be the first report providing thorough assessment of the enteric and autonomic nervous system by analysis of full-thickness small intestinal biopsies, cardiovagal testing and autopsy. HOSPITAL COURSE: This patient affected by a severe gastroparesis was treated with antiemetics, prokinetics, analgesics and gastric electrical stimulation to control symptoms. Nutritional support was made using jejunal feeding tube and, in the final stage of disease, with total parenteral nutrition. Autonomic studies revealed minimal heart rate variability and a disordered Valsalva manoeuvre although the enteric nervous system and the smooth muscle layer showed a normal appearance. Hospital courses were complicated by episodes of bacteraemia and fungemia. Serum antiphospholipid antibodies were noted but despite anticoagulation, she developed a pulmonary embolism and shortly thereafter the patient died. Autopsy revealed acute haemorrhagic Candida pneumonia with left main pulmonary artery thrombus. Sympathetic chain analysis revealed decreased myelinated axons with vacuolar degeneration and patchy inflammation consistent with Guillain-Barre syndrome. The evaluation of the enteric nervous system in the stomach and small bowel revealed no evidence of enteric neuropathy or myopathy. CONCLUSION: A Guillain-Barre-like disease with gastroparesis following acute gastroenteritis is supported by physiological and autonomic studies with histological findings.

Adult↗
PubMed2001

Intracranial metastatic parathyroid carcinoma: case report.

OBJECTIVE AND IMPORTANCE: Parathyroid carcinoma is a rare entity, and fewer than 200 cases have been described. It is a slowly progressive disease characterized by frequent recurrences and local metastases. Most patients with parathyroid carcinoma die from metabolic complications of hyperparathyroidism. Five-year survival rates range from 25 to 50%. Functional parathyroid carcinoma is a rare cause of hyperparathyroidism that affects only 0.32 to 5% of all patients who undergo surgery for hypercalcemia. A review of the literature revealed only one other reported case of metastatic intracranial parathyroid carcinoma, in a patient who experienced local recurrence and metastatic disease when she was diagnosed with an intracranial lesion. CLINICAL PRESENTATION: We report the case of a 44-year-old African-American man with recent-onset, right lower-extremity weakness and hypercalcemia 4 years after he underwent a parathyroidectomy for parathyroid carcinoma. At presentation, his parathyroid level was 467 pg/ml, and his serum calcium level was 15.2 mg/dl. Imaging studies revealed an isolated enhancing left mesial frontoparietal mass. A systemic Cardiolite study demonstrated a single focus of radiotracer uptake in this region. No abnormal uptake was demonstrated in the neck or elsewhere. INTERVENTION: The patient underwent a frameless stereotactic interventional magnetic resonance imaging-guided resection via a parasagittal interhemispheric approach. Pathological findings were consistent with parathyroid carcinoma. After resection, his right lower-extremity weakness and secondary hyperparathyroidism resolved. CONCLUSION: The typical natural history of parathyroid carcinoma concludes with death from complications of hyperparathyroidism. This case report supports aggressive surgical management to eliminate all parathyroid hormone-secreting malignant tissue and prevent metabolic complications. In this patient, intraoperative magnetic resonance imaging was helpful to ensure complete resection.

Adult↗
PubMed1997

Successful surgical removal of an asymptomatic optic nerve hemangioblastoma in von Hippel-Lindau disease.

An asymptomatic patient with a family history of von Hippel-Lindau disease carried the abnormal gene for this disease. An imaging survey that consisted of computed tomography, magnetic resonance imaging, and cerebral angiography revealed an optic nerve hemangioblastoma. The potential for visual loss in the future was the indication for microsurgical intervention. This was the first asymptomatic optic nerve hemangioblastoma to be imaged and the first to be successfully removed without any permanent neurological deficits or vision loss.

Adult↗
PubMed1997

Chondrosarcoma of the spine and thyroid carcinoma following radiation therapy for Hodgkin's lymphoma.

Second malignant neoplasms are an infrequent but well-documented sequelae of radiation therapy for childhood cancer. We report a 34-year-old man with chondrosarcoma of the spine and thyroid carcinoma diagnosed 24 years after radiation therapy for Hodgkin's lymphoma. Both tumors arose in the previously irradiated field and were not detected until the patient presented with paraplegia. The propensity of these neoplasms to arise in the previously irradiated field warrants physicians to be alert to any manifestations arising in this anatomic area.

Adult↗
PubMed1996

Diffuse Lewy body disease without amyloid plaques in a patient homozygous for apolipoprotein E allele epsilon 4: a case report.

A middle-aged woman developed extrapyramidal motor symptoms, personality and behavioral changes, and rapidly progressive dementia. Apolipoprotein E genotyping revealed that she was homozygous for the epsilon 4 allele. At autopsy, there were numerous cortical and subcortical Lewy bodies but no neuritic plaques (NPs) or neurofibrillary tangles (NFTs). This case, the first explicitly reported patient homozygous for the epsilon 4 allele having dementia of the Lewy body type (DLBT) without NPs and NFTs, reinforces the distinction between DLBT and dementia of the Alzheimer type. It calls into question the pivotal role of the epsilon 4 allele in the pathogenesis of NPs and NFTs but raises the possibility of its being an independent risk factor for the development of DLBT.

Amyloid beta-Protein Precursor↗
PubMed1995

Striatal dihydroxyphenylalanine decarboxylase and tyrosine hydroxylase protein in idiopathic Parkinson's disease and dominantly inherited olivopontocerebellar atrophy.

We measured the levels of dopamine, tyrosine hydroxylase (TH) protein, and dihydroxyphenylalanine (DOPA) decarboxylase (DDC) protein in the striatum of 10 patients with idiopathic Parkinson's disease (PD) and 23 patients with dominantly inherited olivopontocerebellar atrophy (OPCA). The levels of dopamine were markedly reduced (2% of control) in the striatum of the patients with PD, whereas striatal dopamine in the patients with OPCA ranged from normal (> 60% of control) to moderately reduced (20-60% of control) to severely depleted (< 20% of control). Both TH and DDC protein levels were significantly lower than those of the controls in the striatum of all of the patients with PD and in the subgroup of patients with OPCA having severely depleted dopamine. In contradistinction, TH but not DDC protein levels were reduced in those patients with OPCA having moderately reduced dopamine levels. This suggests that in the early stage of nigrostriatal dopamine neurone degeneration, DDC levels may be less susceptible to neurodegenerative influences than is TH synthesis or, alternatively, DDC synthesis may be more aggressively upregulated. Unexpectedly, from the blot immunolabeling analysis an additional DDC-immunoreactive band of slightly lower apparent molecular mass was detected in two of the patients with PD and in 12 of the patients with OPCA. This additional DDC band, which was not present in any of the control subjects, may reflect posttranslational modification(s) of DDC related to the neurodegenerative process.

Aged↗
PubMed1991

Continuous intratumoral infusion of methotrexate for recurrent glioblastoma: a pilot study.

Five patients with documented recurrences of glioblastoma multiforme were given continuous infusions of methotrexate delivered intratumorally using implantable catheters and subcutaneous refillable pumps. A continuous infusion of methotrexate (1 mg/d) was begun with concomitant oral administration of folinic acid. The methotrexate dose was increased every 2 weeks to 3, 10, 30, and, ultimately, 75 mg/d in two patients. Samples of serum and ventricular cerebrospinal fluid (CSF) were obtained to determine the levels of methotrexate and total bioactive folates, and brain tissue was obtained from two patients for determination of methotrexate concentration. The patients survived from 7 to 49 weeks after the implantation of the infusion device. Neither the clinical examination nor sequential radiological studies gave clear evidence of reduction in tumor size. Pneumonia developed in one patient, and mild hepatitis and increased seizure frequency in another. Methotrexate was stable in the delivery system over 12 days, and ventricular CSF reached steady-state levels by 5 days. Steady-state ventricular CSF levels of methotrexate were higher than serum levels in some patients, while the reverse was true in others. Levels of total bioactive folates in the CSF did not increase above the normal range. Methotrexate concentrations were highest at the center of the tumor, but measurable amounts of methotrexate were detectable in all areas of the brain. At autopsy in four patients, variable liquefactive necrosis of the brain tumors was seen, and viable tumor was found at the periphery of the tumor bed. These preliminary results suggest that it is technically feasible to infuse methotrexate into brain tumor cavities, and show that little central nervous system or systemic toxicity was encountered in five patients. Better delineation of the safety and efficacy of this therapeutic approach will require further clinical trials.

Brain Chemistry↗
PubMed1986

A cluster of Pallister-Hall syndrome cases, (congenital hypothalamic hamartoblastoma syndrome).

We report on three infants with hand anomalies and congenital hypopituitarism. In two of the cases, a hypothalamic tumor was found; the third infant died without postmortem brain studies. Family history in the first case suggested possible familial recurrence; the mother's sister had died at 17 hr of age with polydactyly, microglossia, and flat nasal bridge (no autopsy done). Our second case was born by cesarean section after a pregnancy complicated by extremely low maternal estriols. At birth, hypopituitarism was diagnosed, a cranial CT scan was read as normal, and hormonal replacement was begun with thyroxine, hydrocortisone, and growth hormone. At 11.5 mo of age she developed seizures; and a repeat CT scan showed a mass extending beneath the hypothalamus. This tumor was removed surgically at 12 mo, the first successful treatment of this disorder. Our third possible case had a bifid epiglottis, hypopituitarism, and hand anomalies. A CT scan at birth failed to reveal a mass in the hypothalamus. This child died from complications of untreated hypopituitarism, and no neuropathology studies were done. These three cases were conceived between March 10th and April 17th in three different years in three geographically contiguous counties of Vermont. Clustering in time and space and possible familial recurrence, in one of these cases, suggest a possible gene/environment interaction.

Abnormalities, Multiple↗
PubMed1983

Primary malignant nerve sheath tumor of the gasserian ganglion: a report of two cases.

Primary tumors of the gasserian ganglion are usually benign, and secondary tumors are malignant. We report two cases of a malignant primary tumor of the gasserian ganglion, bringing the total in the world literature to five. The presentation, etiological features, and treatment of these cases are reviewed, together with a review of the literature. Preoperative differentiation from a benign tumor is not possible with certainty. A combination of operation and radiation therapy seems to be the best treatment at present.

Aged↗
PubMed1981

Cornea pseudoguttata: a clinical and histopathologic description of endothelial cell edema.

Cornea guttata is a well-recognized corneal condition that is characterized by localized thickenings of Descemet's membrane. When these lesions disrupt, the regular endothelial mosaic, dark spots are seen in specular reflection. This same clinical appearance can be present during short-term episodes of iritis and corneal inflammation. Since it disappears with resolution of the inflammation, true cornea guttata (thickening of Descemet's membrane) obviously does not occur. Three cases of this transient clinical entity occurred. Production of iritis and corneal inflammation in rabbits with the use of bovine serum albumin and cautery resulted in the same transient appearance of dark spots, which interrupted the normal endothelial mosaic seen in specular reflection. Scanning and transmission electron microscopy of the cornea "pseudoguttata" disclosed transient endothelial cel edema.

Adult↗
PubMed1981

Traumatic neuromas of the facial nerve.

The temporal bones in two patients contained asymptomatic neuromas of the facial nerve and a third patient had an identical tumor of the chorda tympani. All three neuromas occurred in the presence of chronic inflammatory middle ear disease. Histologically all three resembled traumatic (repairative) neuromas. Both of the facial nerve lesions occurred at a site of frequent fallopian canal dehiscence. It is suggested that occasionally, long-term exposure to the facial nerve to chronic inflammation results in proliferation of neurofibrils leading to neuroma formation.

Adolescent↗
PubMedDate not supplied

Really painful double vision.

A 67-year-old woman with a history of chronic headache and recent removal of two squamous cell lesions from her forehead presented with left facial pain and diplopia. A diagnosis of Tolosa-Hunt syndrome was made based on clinical presentation and imaging studies. When the patient did not respond to steroids, further studies were done, including biopsy, which revealed perineural spread of squamous cell carcinoma.

Aged↗